"Nobody listened to us for years": Parents' experiences of provider communication in the diagnostic odyssey. Mol Genet Metab 2025 Dec;146(4):109283
Date
11/14/2025Pubmed ID
41232198Pubmed Central ID
PMC12862594DOI
10.1016/j.ymgme.2025.109283Scopus ID
2-s2.0-105023911059 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
BACKGROUND: Well-recognized challenges in rare disease diagnosis include limited awareness of rare diseases among healthcare providers and barriers to accessing genetic testing. Less well understood are the ways in which communication between parents of undiagnosed children and providers may impact access to diagnosis, as well as quality of care broadly. We sought to characterize key dynamics of communication between parents of undiagnosed children and healthcare providers during the diagnostic odyssey.
METHODS: Parents of undiagnosed children undergoing genomic sequencing were recruited from clinical and research settings and Facebook groups. Participants completed up to three sequential, in-depth interviews. Data were analyzed inductively to identify key themes.
RESULTS: Parents (n = 36) identified three key dimensions of their experiences communicating with providers during the diagnostic odyssey, including examples of both effective and challenging communication related to: 1) providers' availability and responsiveness; 2) trust and validation of their concerns by providers; and 3) communication across multiple providers. Parents also described employing divergent strategies, such as increased persistence and advocacy, or minimized communication and resignation, in response to challenges.
CONCLUSIONS: Our study identified ways in which parent-provider communication can facilitate or hinder access to diagnosis and care for children with undiagnosed diseases. However, communication challenges were not universal, suggesting opportunities for intervention. Additional research is needed to identify interventions to improve parent-provider interactions during the diagnostic odyssey and to systematically evaluate the impact on time to diagnosis, access to care and patient health outcomes.
Author List
Nguyen MM, Mahfoozi S, Bonner D, Martschenko DO, Giri A, Tang C, Undiagnosed Diseases Network, Bernstein JA, Wheeler MT, Halley MCAuthor
Meghan C. Halley PhD, BA, MPH Assistant Professor in the Institute for Health and Humanity department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultChild
Communication
Female
Genetic Testing
Health Personnel
Humans
Male
Middle Aged
Parents
Professional-Family Relations
Rare Diseases
